A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694351



Internal ID15431003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70911146..70913830hg38UCSC Ensembl
Innerchr2:71138276..71140960hg19UCSC Ensembl
Innerchr2:70991784..70994468hg18UCSC Ensembl
Innerchr2:71049931..71052615hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382685
hg192685
hg182685
hg172685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519862
Supporting Variants
Samples
Known GenesVAX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694351
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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